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Human Mutation|December 3, 2009
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsKarla P Figueroa, Natali A Minassian, Giovanni Stevanin, et al.Annals of Neurology|March 17, 2015
Polygenic risk of Parkinson disease is correlated with disease age at onsetValentina Escott-Price, , Mike A Nalls, et al.Nature Genetics|December 22, 2005
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathyAnne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, et al.Archives of Neurology|January 14, 2009
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanismsPablo Ibáñez, Suzanne Lesage, Sabine Janin, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2014
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndromeJanel O Johnson, Giovanni Stevanin, Joyce van de Leemput, et al.Human Genetics|February 3, 2007
A novel locus for autosomal recessive spastic ataxia on chromosome 17pNaima Bouslam, Ahmed Bouhouche, Ali Benomar, et al.American Journal of Human Genetics|July 6, 2010
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell linesJun Mitsui, Yuji Takahashi, Jun Goto, et al.Brain : a Journal of Neurology|February 16, 2013
C9orf72 repeat expansions are a rare genetic cause of parkinsonismSuzanne Lesage, Isabelle Le Ber, Christel Condroyer, et al.Journal of Neurology|March 9, 2013
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia casesJustyna Jezierska, Giovanni Stevanin, Hiroyuki Watanabe, et al.BMC Neuroscience|November 7, 2013
Parkin depletion delays motor decline dose-dependently without overtly affecting neuropathology in α-synuclein transgenic miceMargot Fournier, Amandine Roux, Jérôme Garrigue, et al.Pageof 50